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Arginine‐ but not alanine‐rich carboxy‐termini trigger nuclear translocation of mutant keratin 10 in ichthyosis with confetti
Ichthyosis with confetti (IWC) is a genodermatosis associated with dominant‐negative variants in keratin 10 (KRT10) or keratin 1 (KRT1). These frameshift variants result in extended aberrant proteins, localized to the nucleus rather than the cytoplasm. This mislocalization is thought to occur as a r...
Autores principales: | Renz, Patricia, Imahorn, Elias, Spoerri, Iris, Aushev, Magomet, March, Oliver P., Wariwoda, Hedwig, Von Arb, Sarah, Volz, Andreas, Itin, Peter H., Reichelt, Julia, Burger, Bettina |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6850952/ https://www.ncbi.nlm.nih.gov/pubmed/31638346 http://dx.doi.org/10.1111/jcmm.14727 |
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